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MUTYH -associated polyposis (MAP) is a rare hereditary condition caused by the biallelic mutation in the  MUTYH  gene encoding MUTYH glycosylase. This enzyme is a key member of the base excision repair (BER) pathway responsible for the repair of DNA lesions formed by reactive oxygen species (ROS). We report two cases of MAP. In case 1, a 67-year-old woman who presented with a personal history of colorectal and endometrial cancer and a family history of cancer syndromes underwent multigene panel testing that revealed a germline homozygous (biallelic) pathogenic variant c.1187G > A (p.Gly396Asp) in the  MUTYH  gene. Subsequent sequencing analysis performed in the offspring of the proband identified all three asymptomatic offspring as carriers of this pathogenic variant. In case 2, a 40-year-old woman with a strong family history of colorectal cancer [the proband’s sister was a carrier of the pathogenic variant c.536A > G (p.Tyr179Cys) of the  MUTYH  gene] and renal cancer underwent sequencing analysis of the  MUTYH  gene. The pathogenic heterozygous (monoallelic) variant c.536A > G (p.Tyr179Cys) of the  MUTYH  gene was identified in the proband. We found another pathogenic variant of the  MUTYH  gene—heterozygous (monoallelic) mutation c.1187G > A (p.Gly396Asp) in the genome of the proband’s husband. Molecular analysis of their offspring revealed that they are compound heterozygotes for  MUTYH  pathogenic variants c.536A > G (p.Tyr179Cys)/c.1187G > A (p.Gly396Asp). This paper shows the importance of genetic testing of asymptomatic relatives of the proband to ensure an early surveillance and management of individuals positive for pathogenic variant (s) in the  MUTYH  gene.

Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals